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Gene | MAP2K1 |
Variant | G128D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 G128D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). G128D confers a gain of function to the Map2k1 protein as indicated by increased Erk phosphorylation in culture (PMID: 28115009, PMID: 25899310, PMID: 34726260). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 G128D |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436837G>A |
cDNA | c.383G>A |
Protein | p.G128D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |